ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp)

gnomAD frequency: 0.00001  dbSNP: rs947116571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817192 SCV000957740 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-06-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on COL12A1 protein function. ClinVar contains an entry for this variant (Variation ID: 660068). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 2050 of the COL12A1 protein (p.Gly2050Trp).
GenomeConnect - Invitae Patient Insights Network RCV000817192 SCV004228867 not provided Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-09-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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